ClinVar Miner

Variants in gene LRSAM1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
22 22 260 145 55 2 460

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 2P 21 14 224 93 26 2 360
not provided 1 4 26 31 28 0 89
Charcot-Marie-Tooth disease 3 6 31 27 11 0 77
not specified 0 0 2 36 4 0 41
Charcot-Marie-Tooth disease, type 2 0 0 4 1 0 0 5
Inborn genetic diseases 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease type 4 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type I 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 16 10 189 88 18 0 321
GeneDx 0 3 18 44 30 0 95
Illumina Clinical Services Laboratory,Illumina 0 0 47 26 14 0 87
Molecular Genetics Laboratory,London Health Sciences Centre 2 6 22 27 11 0 68
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 9 1 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 3 4 0 7
Genesis Genome Database 0 0 7 0 0 0 7
OMIM 4 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Inherited Neuropathy Consortium 0 0 4 0 0 0 4
Baylor Genetics 0 0 2 0 0 0 2
Ambry Genetics 0 0 2 0 0 0 2
Mendelics 0 0 1 0 1 0 2
GeneReviews 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 1 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 0 1 0 0 0 0 1

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